Maria Luisa Carpanelli

Characterization of human disease phenotypes associated with mutations in <i>TREX1</i>, <i>RNASEH2A</i>, <i>RNASEH2B</i>, <i>RNASEH2C</i>, <i>SAMHD1</i>, <i>ADAR</i>, and <i>IFIH1</i>

Yanick J. Crow, Diana Chase, Johanna L. Schmidt et al. · American Journal of Medical Genetics Part A · 2015 · 613 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Genetic, Phenotypic, and Interferon Biomarker Status in ADAR1-Related Neurological Disease

Gillian Rice, Naoki Kitabayashi, Magalie Barth et al. · Neuropediatrics · 2017 · 92 citations · Full text

Life Sciences, Genetics, Neurology +14

Pediatric epilepsy following neonatal seizures symptomatic of stroke

Agnese Suppiej, Massimo Mastrangelo, Laura Mastella et al. · Brain and Development · 2015 · 49 citations

Medicine, Neurology, Pediatrics +14